- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 5/64. (PMID:30442288)
- Concentric hypertrophic cardiomyopathy (HP:0005157): Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. Evidence: PCS. Frequency: 4/41. (PMID:30442288)
- Asymmetric septal hypertrophy (HP:0001670): Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. Evidence: PCS. Frequency: 35/41. (PMID:30442288)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:30442288)
- Atrial fibrillation (HP:0005110): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: PCS. Frequency: 6/55. (PMID:30442288)
- Apical hypertrophic cardiomyopathy (HP:0031992): Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. Evidence: PCS. Frequency: 2/41. (PMID:30442288)
- Reduced left ventricular ejection fraction (HP:0012664): A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. Evidence: PCS. Frequency: 6/46. (PMID:30442288)
- Systolic anterior motion of the mitral valve (HP:0031656): Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. Evidence: PCS. Frequency: 5/40. (PMID:30442288)
- Myocardial late gadolinium enhancement (HP:4000004): Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. Evidence: PCS. Frequency: 11/17. (PMID:30442288)
- Left atrial enlargement (HP:0031295): Increase in size of the left atrium. Evidence: PCS. Frequency: 19/39. (PMID:30442288)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:30442288)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: PCS. Frequency: 11/68. (PMID:30442288)
- Left ventricular outflow tract obstruction (HP:0032092): Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. Evidence: PCS. Frequency: 9/42. (PMID:30442288)
These phenotypes are associated with the disease cardiomyopathy, familial hypertrophic, 28 (OMIM:619402).